diphthamide deficiency syndrome 1

Diphthamide Deficiency Syndrome (DDS) is a rare genetic disorder characterized by various physical and developmental anomalies.

Key Features:

• Craniofacial dysmorphism [4]
• Short stature [4, 8]
• Ectodermal anomalies [4]
• Developmental delay [4, 5, 8]
• Dysmorphic facial features [5, 8]
• Sparse hair [5]

Other Aspects:

• The syndrome is inherited in an autosomal recessive manner [6]
• It is also known as DEDSSH1, DPH1 syndrome, and Loucks-Innes syndrome [6]

Note that the information provided is based on a summary of search results and may not be comprehensive or up-to-date. If you need more detailed or specific information, please let me know!

Based on the search results, it appears that diphthamide deficiency syndrome has several signs and symptoms.

Common Signs and Symptoms:

• Macrocephaly (a condition where the head is larger than normal) [1]
• Developmental delays [2]
• Short stature [4]
• Dysmorphic craniofacial features (abnormalities in the shape of the face and skull) [1]
• Congenital heart disease (heart problems present at birth) [

Diagnostic Tests for Diphthamide Deficiency Syndrome

Diphthamide deficiency syndrome, a rare inherited metabolic disorder, can be diagnosed through various genetic and biochemical tests.

• Whole-exome sequencing (WES): This is the primary diagnostic test for diphthamide deficiency syndrome. WES involves analyzing the entire genome of an individual to identify any genetic mutations that may be causing the condition [1].
• Biochemical tests: These tests can help confirm the diagnosis by measuring the levels of certain enzymes and metabolites in the body. For example, a deficiency in diphthamide-dependent elongation factor 2 (eEF2) can be detected through biochemical assays [8].
• Functional studies: These studies involve analyzing the function of the DPH5 gene and its protein product to determine if any mutations are affecting its activity [7].

It's worth noting that a combination of these tests may be used to confirm the diagnosis, as each test has its own limitations and sensitivities.

References:

• [1] Hawer H (2020) Methods for diagnosing diphthamide deficiency syndrome.
• [8] Schaffrath R (Cited by 4) Diphthamide, a complex modification on eukaryotic translation elongation factor 2 (eEF2), assures reading-frame fidelity during translation.
• [7] Shankar SP (2022) Evidence for pathogenicity of the DPH5 variants using functional studies, biochemical tests, and computational modeling.

Based on the search results, it appears

Differential Diagnosis of Diphthamide Deficiency Syndrome

Diphthamide deficiency syndrome (DDS) is a rare genetic disorder characterized by intellectual disability, developmental abnormalities, seizures, and other neurological symptoms. When considering the differential diagnosis of DDS, several conditions should be taken into account.

• Other Ribosomopathies: Conditions such as Diamond-Blackfan anemia and Shwachman-Diamond syndrome also involve defects in ribosome biogenesis or function, which can lead to similar clinical manifestations.
• Intellectual Disability and Seizures: Other genetic disorders that present with intellectual disability and seizures, such as tuberous sclerosis complex and Angelman syndrome, should be ruled out through comprehensive diagnostic testing.
• Neurodevelopmental Disorders: Conditions like autism spectrum disorder and cerebral palsy can also present with developmental abnormalities and neurological symptoms, making them part of the differential diagnosis.

Key Diagnostic Features to Consider

When differentiating DDS from other conditions, the following features are crucial:

• Genetic Testing: Mutations in the DPH1 gene or other genes involved in diphthamide synthesis should be identified through genetic testing.
• Clinical Presentation: The presence of intellectual disability, developmental abnormalities, seizures, and other neurological symptoms can help narrow down the differential diagnosis.
• Imaging Studies: Neuroimaging studies may reveal structural abnormalities in the brain that can aid in differentiating DDS from other conditions.

References

1. [4] by K Ütkür · 2023 · Cited by 5 — The autosomal-recessive diphthamide deficiency syndrome presents as intellectual disability with developmental abnormalities, seizures, ...
2. [8] by R Schaffrath · Cited by 4 — Homozygous or compound heterozygous mutations that compromise diphthamide synthesis enzymes can cause diphthamide deficiency syndrome.
3. [10] by SP Shankar · 2022 · Cited by 9 — Article. A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.

Note: The citations provided are based on the search results and are used to support the information presented in the answer.